Skeletal Dysplasia_Fetal
Gene: FLNB
FLNB (filamin B)
EnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gene associated with a number of skeletal dysplasias, which are relevant to the pre-natal setting.Created: 3 Dec 2019, 3:55 a.m. | Last Modified: 23 Dec 2021, 3:07 a.m.
Panel Version: 0.1604
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Larsen syndrome, MIM#150250; Atelosteogenesis, type I, MIM# 108720; Atelosteogenesis, type III, MIM# 108721; Boomerang dysplasia, MIM# 112310; Spondylocarpotarsal synostosis syndrome, MIM# 272460
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Genetic Health Queensland
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 603381
- Clinvar variants
- Variants in FLNB
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Short Long Bones with Advanced Carpal Bone Age
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Arthrogryposis
- Multiple joint dislocations and laxity
- Mendeliome
- Intellectual disability syndromic and non-syndromic
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FLNB was added gene: FLNB was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLNB was set to Unknown